Canonical Allele Identifier: CA2573156324

Gene: RYR1

Linked Data

• ClinVar Variation Id: 1415967
• ClinVar RCV Id: RCV001947786
• dbSNP Id: rs2145845243

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565346del , CM000681.2:g.38565346del	GRCh38
NC_000019.9:g.39055986del , CM000681.1:g.39055986del	GRCh37
NC_000019.8:g.43747826del	NCBI36
NG_008866.1:g.136647del , LRG_766:g.136647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1422del
ENST00000689936.1:c.1404del
ENST00000359596.8:c.13012del MANE Select	ENSP00000352608.2:p.Ala4338GlnfsTer3
ENST00000355481.8:c.12997del	ENSP00000347667.3:p.Ala4333GlnfsTer3
ENST00000359596.7:c.13012del	ENSP00000352608.2:p.Ala4338GlnfsTer3
ENST00000360985.7:c.12994del	ENSP00000354254.4:p.Ala4332GlnfsTer3
NM_000540.2:c.13012del , LRG_766t1:c.13012del	NP_000531.2:p.Ala4338GlnfsTer3
NM_001042723.1:c.12997del	NP_001036188.1:p.Ala4333GlnfsTer3
XM_006723317.1:c.12994del	XP_006723380.1:p.Ala4332GlnfsTer3
XM_006723319.1:c.12979del	XP_006723382.1:p.Ala4327GlnfsTer3
XM_011527204.1:c.13009del	XP_011525506.1:p.Ala4337GlnfsTer3
XM_011527205.1:c.13012del	XP_011525507.1:p.Ala4338GlnfsTer3
XM_006723317.2:c.12994del	XP_006723380.1:p.Ala4332GlnfsTer3
XM_006723319.2:c.12979del	XP_006723382.1:p.Ala4327GlnfsTer3
XM_011527205.2:c.13012del	XP_011525507.1:p.Ala4338GlnfsTer3
NM_000540.3:c.13012del MANE Select	NP_000531.2:p.Ala4338GlnfsTer3
NM_001042723.2:c.12997del	NP_001036188.1:p.Ala4333GlnfsTer3